Results 91 to 100 of about 5,991 (200)

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach. [PDF]

, 2016
Multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder is a rare inherited progressive skeletal disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene. Treatment options are limited.
Bonafé, L., Karall, D., Kotzot, D., Maurer, K., Mittaz-Crettol, L., Pichler, K., Rümmele-Waibel, A., Scholl-Bürgi, S., Steichen-Gersdorf, E., Superti-Furga, A., Wanschitz, J.   +10 more
core   +1 more source

Collagen XII Plays a More Prominent Cell‐Mediated Role in Tendon Organization Compared to Matrix Assembly During Postnatal Development

The FASEB Journal, Volume 39, Issue 21, 15 November 2025.
Temporal roles of collagen XII in regulating cell and matrix organization during tendon development were investigated by tendon‐targeted knockout throughout development and induced knockdown at birth. Tendon‐targeted knockout disrupted patellar tendon morphology, cell and matrix organization, and mechanical properties.
Ashley K. Fung, Stephanie N. Weiss, Courtney A. Nuss, William Yen, Susan W. Volk, Nathaniel A. Dyment, Louis J. Soslowsky   +6 more
wiley   +1 more source

Corneal clarity measurements in patients with keratoconus undergoing either penetrating or deep anterior lamellar keratoplasty

Clinical Ophthalmology, 2018
Khaled Alzahrani,1,2 Syarifah-Faiza Dardin,1 Fiona Carley,2 Arun Brahma,2 Debbie Morley,2 M Chantal Hillarby1 1Division of Pharmacy and Optometry, School of Health Sciences, University of Manchester, Manchester, UK; 2Manchester Royal Eye Hospital ...
Alzahrani K, Dardin SF, Carley F, Brahma A, Morley D, Hillarby MC   +5 more
doaj  

Dual role of the p38 \(MAPK/cPLA_2\) pathway in the regulation of platelet apoptosis induced by ABT-737 and strong platelet agonists [PDF]

, 2013
p38 Mitogen-activated protein (MAP) kinase is involved in the apoptosis of nucleated cells. Although platelets are anucleated cells, apoptotic proteins have been shown to regulate platelet lifespan.
Gambaryan, S., Mindukshev, I., Rukoyatkina, N., Walter, U.   +3 more
core   +1 more source

Regional corneal biomechanics assessment as a function of age using Strain–Stress Index maps

Ophthalmic and Physiological Optics, Volume 45, Issue 7, Page 1773-1779, November 2025.
Abstract Purpose To gain a better understanding of corneal Stress–Strain Index (SSI) maps in healthy eyes and to determine their changes with age. Method The eyes of 72 participants (age 43.1 ± 20.9 years, 69.5% female) were included in the analysis, considering the left and right eyes separately.
Vahoura Tahsini, Marta Jiménez‐García, Ahmed Makarem, Ahmed Elsheikh, Philippe Büchler, Sabine Kling, Jos J. Rozema   +6 more
wiley   +1 more source

Topometric Indices And Corneal Densitometry Change After Corneal Refractive Surgery Combined With Simultaneous Collagen Crosslinking

Clinical Ophthalmology, 2019
Yonrawee Piyacomn, Ngamjit Kasetsuwan, Vilavun Puangsricharern, Usanee Reinprayoon, Vannarut Satitpitakul, Patchima Chantaren Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok ...
Piyacomn Y, Kasetsuwan N, Puangsricharern V, Reinprayoon U, Satitpitakul V, Chantaren P   +5 more
doaj  

Small Molecule Targeting of Atypical p38 Protects Against Viral Infection

The FASEB Journal, Volume 39, Issue 20, 31 October 2025.
Targeting host signaling pathways offers a complementary strategy to direct‐acting antivirals. Small‐molecule modulators of atypical p38 block Hepatitis C virus replication and also inhibit Human Cytomegalovirus. By disrupting virus‐induced p38 activation, these compounds suppress viral RNA replication and protein expression, highlighting atypical p38 ...
Fredejah T. Royer, Jeremy C. Burton, Johnathan Burns, Megan G. Lloyd, Reuben Onwe, Jennifer F. Moffat, Neil J. Grimsey   +6 more
wiley   +1 more source

Biochemical study of dermatan sulfate glycosaminoglycan in adult male patients with Nyhus type II inguinal hernia [PDF]

, 2011
OBJECTIVE: To compare the amount of the dermatan sulfate glycosaminoglycan between male patients with Nyhus type II inguinal hernias and subjects without inguinal hernia, aged between 20 and 40 years.
Dreyfuss, Juliana Luporini, Gonçalves, Rogério de Oliveira, Kobayashi, Elza Yoko, Lopes Filho, Gaspar de Jesus, Nader, Helena Bonciani, Silva, Evandro de Moraes e   +5 more
core   +1 more source

Endothelial MEMO1 Regulates Angiogenic Signaling in a Model of Retinopathy of Prematurity

FASEB BioAdvances, Volume 7, Issue 9, September 2025.
Vascular endothelial growth factor (VEGF) drives both normal and pathological angiogenesis in retinopathy of prematurity (ROP). In a rat ROP model, MEMO1 was identified as a regulator of VEGF signaling in retinal microvascular endothelial cells (RMVECs).
Aniket Ramshekar, Bright Asare‐Bediako, Jasmine Nguyen, Arundhathy Suresh, Aaron Simmons, Colin A. Bretz, Haibo Wang, Eric Kunz, Chandler J. Zaugg, Chris Wallace‐Carrete, M. Elizabeth Hartnett   +10 more
wiley   +1 more source